Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12129026G>A , CM000686.2:g.12129026G>A | GRCh38 |
| NC_000024.9:g.14249732G>A , CM000686.1:g.14249732G>A | GRCh37 |
| NC_000024.8:g.12759732G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651802.1:n.713-13713C>T |